P87R (p.Pro87Arg) variant of COL6A3 (Collagen alpha-3(VI) chain)
P87R (p.Pro87Arg) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Bethlem myopathy 1A; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
P87R (p.Pro87Arg) variant details
- p.Pro87Arg
- rs200887514
- ClinGen CA2189904
- ClinVar RCV000795081
- ClinVar RCV005630817
- Uncertain significance
- Inborn genetic diseases; Bethlem myopathy 1A; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.72
- MetaLR 0.66
- MetaSVM 0.25
- CADD 25.10
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Bethlem myopathy 1A; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Cited in: Collagen VI-Related Dystrophies. (PMID 20301676)
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)